Results 131 to 140 of about 1,071 (153)

Mutation of the CLN6 Gene in Teenage-Onset Progressive Myoclonus Epilepsy

Pediatric Neurology, 2012
Progressive myoclonus epilepsies are severe, intractable, and neurodegenerative. They afflict patients of all ages, but more commonly adolescents, and comprise the main differential diagnosis of common juvenile myoclonic epilepsy. Genetic or minimally invasive pathologic diagnoses are available for many but not all teenage-onset progressive myoclonus ...
Danielle M, Andrade, Tara, Paton, Julie, Turnbull, Christian R, Marshall, Stephen W, Scherer, Berge A, Minassian   +5 more
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Analysis of candidate genes in the CLN6 critical regionusing in silico cloning

European Journal of Paediatric Neurology, 2001
CLN6, the gene for variant late infantile neuronal ceroid lipofuscinosis, was mapped to a 4 cM region on chromosome 15q22-23. Subsequently the critical region was narrowed to less than 1 cM between microsatellite markers D15S988 and D15S1000 by additional marker typing in an expanded family resource.
J D, Sharp, R B, Wheeler, R A, Schultz, J M, Joslin, S E, Mole, R E, Williams, R M, Gardiner   +6 more
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Juvenile-Onset Kufs Disease in a Chinese Consanguineous Family due to CLN6 Mutation

Neurodegenerative Diseases, 2021
<b><i>Objective:</i></b> The aim of this study was to identify the genetic cause of two cases of Kufs disease in the same family. The two affected individuals exhibited different levels of severity under magnetic resonance imaging (MRI).
Weimin Jia, Yalin Luo, Jiuxiang Wang, Yue Yang, Wenming Yang, Xianqin Zhang   +5 more
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Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6

Biochemical and Biophysical Research Communications, 2009
The neuronal ceroid lipofuscinoses (NCL) are heterogeneous neurodegenerative disorders with typical autofluorescence material stored in tissues. Ten clinical NCL forms and eight causative genes are known. Mutations in CLN6 have been reported in roughly 30 patients, mostly in association with the variant late-infantile NCL (v-LINCL) phenotype.
Cannelli N., Garavaglia B., SIMONATI, Alessandro, Aiello C., Barzaghi C., PEZZINI, Francesco, Cilio M. R., Biancheri R., Morbin M., DALLA BERNARDINA, Bernardo, Granata T., Tessa A., Invernizzi F., Pessagno A., Boldrini R., Zibordi F, Grazian L., Claps D., Carrozzo R., Mole S. E., Nardocci N., Santorelli F. M.   +21 more
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Cellular Modeling of CLN6 with IPSC-derived Neurons and Glia

ABSTRACT Neuronal ceroid lipofuscinosis (NCL), type 6 (CLN6) is a neurodegenerative disorder associated with progressive neurodegeneration leading to dementia, seizures, and retinopathy. CLN6 encodes a resident-ER protein involved in trafficking lysosomal proteins to the Golgi ...
Maria Gabriela Otero, Jaemin Kim, Yogesh Kumar Kushwaha, Alex Rajewski, Fabian David Nonis, Chintda Santiskulvong, Serguei I. Bannykh, Hiral Oza, Hafiz Muhammad Umer Farooqi, Madeline Babros, Christina Freeman, Lucie Dupuis, Saadat Mercimek-Andrews, Roberto Mendoza-Londono, Catherine Bresee, David R. Adams, Cynthia J. Tifft, Camilo Toro, Negar Khanlou, William A. Gahl, Noriko Salamon, Tyler Mark Pierson   +21 more
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A novel homozygous CLN6 Tyr142Cys variant in a nonconsanguineous family with Kufs disease

Neurological Sciences
Neuronal ceroid lipofuscinoses are a genetically heterogeneous group of inherited lysosomal storage disorders. Kufs disease is the predominant form of neuronal ceroid lipofuscinosis in adults, but it's rare and challenging to diagnose.The proband initially presented with cognitive deterioration and parkinsonian traits.
Boli Chen, Yue Liu, Naiqing Cai, Ning Wang, Kang Yang   +4 more
openaire   +2 more sources

Modeling CLN6 with IPSC-derived neurons and glia

Molecular Genetics and Metabolism, 2023
Tyler M. Pierson, Yogesh K. Kushwaha, Hiral Oza, Maria G. Otero   +3 more
openaire   +1 more source

Variant Late Infantile Neuronal Ceroid Lipofuscinosis (CLN6 Gene) in Saudi Arabia

Pediatric Neurology, 2009
Variant late infantile neuronal ceroid lipofuscinosis is one of the multiethnically prevalent types of neuronal ceroid lipofuscinoses. Reported here are three families representing the first cases from Saudi Arabia, one of them having a novel mutation in the CLN6 gene. The CLN6-related literature is reviewed.
Mohammad A, Al-Muhaizea, Zuhair N, Al-Hassnan, Aziza, Chedrawi   +2 more
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Spectrum ofCLN6mutations in variant late infantile neuronal ceroid lipofuscinosis

Human Mutation, 2003
The neuronal ceroid lipofuscinoses (NCLs) are a group of autosomal recessive neurodegenerative diseases of childhood. CLN6, the gene mutated in variant late infantile NCL (vLINCL), was recently cloned. We report the identification of eight further mutations in CLN6 making a total of 18 reported mutations.
Julie D, Sharp, Ruth B, Wheeler, Keith A, Parker, R Mark, Gardiner, Ruth E, Williams, Sara E, Mole   +5 more
openaire   +2 more sources

Identification of a novel mutation in the CLN6 gene (CLN6) in South Hampshire sheep affected with Neuronal Ceroid Lipofuscinosis

2014
Neuronal ceroid lipofuscinoses (NCL/Batten disease) are a group of fatal inherited neurodegenerative diseases that occur in many species including humans, sheep, dogs and cattle. Typical NCL symptoms include progressive loss of vision, regression of mental and motor development, epileptic seizures and premature death.
openaire   +1 more source